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Results: 1 to 20 of 121

1.

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, Masson C, Toth B, Flatot J, Migaud M, Chrabieh M, Kochetkov T, Bolze A, Borghesi A, Toulon A, Hiller J, Eyerich S, Eyerich K, Gulácsy V, Chernyshova L, Chernyshov V, Bondarenko A, Grimaldo RM, Blancas-Galicia L, Beas IM, Roesler J, Magdorf K, Engelhard D, Thumerelle C, Burgel PR, Hoernes M, Drexel B, Seger R, Kusuma T, Jansson AF, Sawalle-Belohradsky J, Belohradsky B, Jouanguy E, Bustamante J, Bué M, Karin N, Wildbaum G, Bodemer C, Lortholary O, Fischer A, Blanche S, Al-Muhsen S, Reichenbach J, Kobayashi M, Rosales FE, Lozano CT, Kilic SS, Oleastro M, Etzioni A, Traidl-Hoffmann C, Renner ED, Abel L, Picard C, Maródi L, Boisson-Dupuis S, Puel A, Casanova JL.

J Exp Med. 2011 Aug 1;208(8):1635-48. doi: 10.1084/jem.20110958. Epub 2011 Jul 4.

PMID:
21727188
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

Soltész B, Tóth B, Shabashova N, Bondarenko A, Okada S, Cypowyj S, Abhyankar A, Csorba G, Taskó S, Sarkadi AK, Méhes L, Rozsíval P, Neumann D, Chernyshova L, Tulassay Z, Puel A, Casanova JL, Sediva A, Litzman J, Maródi L.

J Med Genet. 2013 Sep;50(9):567-78. doi: 10.1136/jmedgenet-2013-101570. Epub 2013 May 24.

PMID:
23709754
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.

Tsumura M, Okada S, Sakai H, Yasunaga S, Ohtsubo M, Murata T, Obata H, Yasumi T, Kong XF, Abhyankar A, Heike T, Nakahata T, Nishikomori R, Al-Muhsen S, Boisson-Dupuis S, Casanova JL, Alzahrani M, Shehri MA, Elghazali G, Takihara Y, Kobayashi M.

Hum Mutat. 2012 Sep;33(9):1377-87. doi: 10.1002/humu.22113. Epub 2012 Jun 7.

PMID:
22573496
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.

Mizoguchi Y, Tsumura M, Okada S, Hirata O, Minegishi S, Imai K, Hyakuna N, Muramatsu H, Kojima S, Ozaki Y, Imai T, Takeda S, Okazaki T, Ito T, Yasunaga S, Takihara Y, Bryant VL, Kong XF, Cypowyj S, Boisson-Dupuis S, Puel A, Casanova JL, Morio T, Kobayashi M.

J Leukoc Biol. 2014 Apr;95(4):667-76. doi: 10.1189/jlb.0513250. Epub 2013 Dec 16.

PMID:
24343863
[PubMed - indexed for MEDLINE]
5.

Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.

Puel A, Cypowyj S, Bustamante J, Wright JF, Liu L, Lim HK, Migaud M, Israel L, Chrabieh M, Audry M, Gumbleton M, Toulon A, Bodemer C, El-Baghdadi J, Whitters M, Paradis T, Brooks J, Collins M, Wolfman NM, Al-Muhsen S, Galicchio M, Abel L, Picard C, Casanova JL.

Science. 2011 Apr 1;332(6025):65-8. doi: 10.1126/science.1200439. Epub 2011 Feb 24.

PMID:
21350122
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis.

Smeekens SP, Plantinga TS, van de Veerdonk FL, Heinhuis B, Hoischen A, Joosten LA, Arkwright PD, Gennery A, Kullberg BJ, Veltman JA, Lilic D, van der Meer JW, Netea MG.

PLoS One. 2011;6(12):e29248. doi: 10.1371/journal.pone.0029248. Epub 2011 Dec 14.

PMID:
22195034
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis.

Puel A, Cypowyj S, Maródi L, Abel L, Picard C, Casanova JL.

Curr Opin Allergy Clin Immunol. 2012 Dec;12(6):616-22. doi: 10.1097/ACI.0b013e328358cc0b. Review.

PMID:
23026768
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.

Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, Noel RJ, Verbsky JW, Freeman AF, Janssen E, Bonilla FA, Pechacek J, Chandrasekaran P, Browne SK, Agharahimi A, Gharib AM, Mannurita SC, Yim JJ, Gambineri E, Torgerson T, Tran DQ, Milner JD, Holland SM.

J Allergy Clin Immunol. 2013 Jun;131(6):1611-23. doi: 10.1016/j.jaci.2012.11.054. Epub 2013 Mar 25.

PMID:
23534974
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.

Takezaki S, Yamada M, Kato M, Park MJ, Maruyama K, Yamazaki Y, Chida N, Ohara O, Kobayashi I, Ariga T.

J Immunol. 2012 Aug 1;189(3):1521-6. doi: 10.4049/jimmunol.1200926. Epub 2012 Jun 22.

PMID:
22730530
[PubMed - indexed for MEDLINE]
Free Article
10.

Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism.

Hori T, Ohnishi H, Teramoto T, Tsubouchi K, Naiki T, Hirose Y, Ohara O, Seishima M, Kaneko H, Fukao T, Kondo N.

J Clin Immunol. 2012 Dec;32(6):1213-20. doi: 10.1007/s10875-012-9744-6. Epub 2012 Jul 31.

PMID:
22847544
[PubMed - indexed for MEDLINE]
11.

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

van de Veerdonk FL, Plantinga TS, Hoischen A, Smeekens SP, Joosten LA, Gilissen C, Arts P, Rosentul DC, Carmichael AJ, Smits-van der Graaf CA, Kullberg BJ, van der Meer JW, Lilic D, Veltman JA, Netea MG.

N Engl J Med. 2011 Jul 7;365(1):54-61. doi: 10.1056/NEJMoa1100102. Epub 2011 Jun 29.

PMID:
21714643
[PubMed - indexed for MEDLINE]
Free Article
12.

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

Chapgier A, Boisson-Dupuis S, Jouanguy E, Vogt G, Feinberg J, Prochnicka-Chalufour A, Casrouge A, Yang K, Soudais C, Fieschi C, Santos OF, Bustamante J, Picard C, de Beaucoudrey L, Emile JF, Arkwright PD, Schreiber RD, Rolinck-Werninghaus C, Rösen-Wolff A, Magdorf K, Roesler J, Casanova JL.

PLoS Genet. 2006 Aug 18;2(8):e131.

PMID:
16934001
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

Sampaio EP, Hsu AP, Pechacek J, Bax HI, Dias DL, Paulson ML, Chandrasekaran P, Rosen LB, Carvalho DS, Ding L, Vinh DC, Browne SK, Datta S, Milner JD, Kuhns DB, Long Priel DA, Sadat MA, Shiloh M, De Marco B, Alvares M, Gillman JW, Ramarathnam V, de la Morena M, Bezrodnik L, Moreira I, Uzel G, Johnson D, Spalding C, Zerbe CS, Wiley H, Greenberg DE, Hoover SE, Rosenzweig SD, Galgiani JN, Holland SM.

J Allergy Clin Immunol. 2013 Jun;131(6):1624-34. doi: 10.1016/j.jaci.2013.01.052. Epub 2013 Mar 28.

PMID:
23541320
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes.

Boisson-Dupuis S, Kong XF, Okada S, Cypowyj S, Puel A, Abel L, Casanova JL.

Curr Opin Immunol. 2012 Aug;24(4):364-78. doi: 10.1016/j.coi.2012.04.011. Epub 2012 May 30. Review.

PMID:
22651901
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Immunity to infection in IL-17-deficient mice and humans.

Cypowyj S, Picard C, Maródi L, Casanova JL, Puel A.

Eur J Immunol. 2012 Sep;42(9):2246-54. doi: 10.1002/eji.201242605. Review.

PMID:
22949323
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A partial form of recessive STAT1 deficiency in humans.

Chapgier A, Kong XF, Boisson-Dupuis S, Jouanguy E, Averbuch D, Feinberg J, Zhang SY, Bustamante J, Vogt G, Lejeune J, Mayola E, de Beaucoudrey L, Abel L, Engelhard D, Casanova JL.

J Clin Invest. 2009 Jun;119(6):1502-14. doi: 10.1172/JCI37083. Epub 2009 May 11.

PMID:
19436109
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.

Boisson B, Wang C, Pedergnana V, Wu L, Cypowyj S, Rybojad M, Belkadi A, Picard C, Abel L, Fieschi C, Puel A, Li X, Casanova JL.

Immunity. 2013 Oct 17;39(4):676-86. doi: 10.1016/j.immuni.2013.09.002. Epub 2013 Oct 10.

PMID:
24120361
[PubMed - indexed for MEDLINE]
18.

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I.

Puel A, Döffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C, Cobat A, Ouachée-Chardin M, Toulon A, Bustamante J, Al-Muhsen S, Al-Owain M, Arkwright PD, Costigan C, McConnell V, Cant AJ, Abinun M, Polak M, Bougnères PF, Kumararatne D, Marodi L, Nahum A, Roifman C, Blanche S, Fischer A, Bodemer C, Abel L, Lilic D, Casanova JL.

J Exp Med. 2010 Feb 15;207(2):291-7. doi: 10.1084/jem.20091983. Epub 2010 Feb 1.

PMID:
20123958
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.

Kong XF, Vogt G, Itan Y, Macura-Biegun A, Szaflarska A, Kowalczyk D, Chapgier A, Abhyankar A, Furthner D, Djambas Khayat C, Okada S, Bryant VL, Bogunovic D, Kreins A, Moncada-Vélez M, Migaud M, Al-Ajaji S, Al-Muhsen S, Holland SM, Abel L, Picard C, Chaussabel D, Bustamante J, Casanova JL, Boisson-Dupuis S.

Hum Mol Genet. 2013 Feb 15;22(4):769-81. doi: 10.1093/hmg/dds484. Epub 2012 Nov 16.

PMID:
23161749
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.

Dupuis S, Jouanguy E, Al-Hajjar S, Fieschi C, Al-Mohsen IZ, Al-Jumaah S, Yang K, Chapgier A, Eidenschenk C, Eid P, Al Ghonaium A, Tufenkeji H, Frayha H, Al-Gazlan S, Al-Rayes H, Schreiber RD, Gresser I, Casanova JL.

Nat Genet. 2003 Mar;33(3):388-91. Epub 2003 Feb 18.

PMID:
12590259
[PubMed - indexed for MEDLINE]

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